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{
"identifier": "Bardet-Biedl syndrome 2.",
"acronym": "BBS2.",
"accession": "DI-00160",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 20.",
"acronym": "BBS20.",
"accession": "DI-06190",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 21.",
"acronym": "BBS21.",
"accession": "DI-04960",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 22.",
"acronym": "BBS22.",
"accession": "DI-04830",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 3.",
"acronym": "BBS3.",
"accession": "DI-00161",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 4.",
"acronym": "BBS4.",
"accession": "DI-00162",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 5.",
"acronym": "BBS5.",
"accession": "DI-00163",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 6.",
"acronym": "BBS6.",
"accession": "DI-00164",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 7.",
"acronym": "BBS7.",
"accession": "DI-00165",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 8.",
"acronym": "BBS8.",
"accession": "DI-00166",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 9.",
"acronym": "BBS9.",
"accession": "DI-00167",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Glomuvenous malformations.",
"acronym": "GVMs.",
"accession": "DI-01668",
"synonyms": null,
"cross_references": "MedGen; C1841984.",
"definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ",
"keywords": null
},
{
"identifier": "Analbuminemia.",
"acronym": "ANALBA.",
"accession": "DI-04235",
"synonyms": null,
"cross_references": "MeSH; D034141.",
"definition": "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. ",
"keywords": null
},
{
"identifier": "Beaulieu-Boycott-Innes syndrome.",
"acronym": "BBIS.",
"accession": "DI-03901",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ",
"keywords": null
},
{
"identifier": "Anauxetic dysplasia 2.",
"acronym": "ANXD2.",
"accession": "DI-04972",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.",
"acronym": "ACOGS.",
"accession": "DI-05864",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Anauxetic dysplasia 3.",
"acronym": "ANXD3.",
"accession": "DI-05799",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Birk-Barel syndrome.",
"acronym": "BIBARS.",
"accession": "DI-02513",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Beck-Fahrner syndrome.",
"acronym": "BEFAHRS.",
"accession": "DI-05782",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cone-rod dystrophy 19.",
"acronym": "CORD19.",
"accession": "DI-04129",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
}
]
}